A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
Annals of Pediatric Endocrinology & Metabolism
;
: 36-41, 2014.
Artículo
en Inglés
| WPRIM
| ID: wpr-158571
ABSTRACT
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene defects in XLH have been revealed; these include missense mutations, nonsense mutations, splice site mutations, insertions, and deletions. Recently, we encountered a 2-year-9-month-old female with sporadic hypophosphatemic rickets. She underwent osteotomy, dental abscess was evident, and there was severe bowing of the legs. A low serum phosphorus level in combination with elevated serum alkaline phosphatase activity and normal serum calcium is suggestive of hypophosphatemic rickets. PHEX gene analysis revealed a splice acceptor site mutation, c.934-1G>T (IVS8-1G>T), at the intron8 and exon9 junction. To the best of our knowledge, this mutation is novel and has not been reported. The results of this study expand and improve our understanding of the clinical and molecular characteristics and the global pool of patients with sporadic hypophosphatemic rickets.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteotomía
/
Fósforo
/
Calcio
/
Codón sin Sentido
/
Mutación Missense
/
Sitios de Empalme de ARN
/
Absceso
/
Fosfatasa Alcalina
/
Raquitismo Hipofosfatémico Familiar
/
Raquitismo Hipofosfatémico
Límite:
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Annals of Pediatric Endocrinology & Metabolism
Año:
2014
Tipo del documento:
Artículo
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